ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1262G>A (p.Trp421Ter) (rs559510809)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168200 SCV000218865 pathogenic Familial adenomatous polyposis 1 2014-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 421 (p.Trp421*). It is expected to result in an absent or disrupted protein product. This sequence change has not been published in the literature and is not present in population databases. Truncating sequence changes in APC are known to be pathogenic. Although this particular sequence change has not been published in the literature, another sequence change (c.1262_1263delinsAA), which also results in the same truncation (p.Trp421*), has been reported in a familial adenomatous polyposis case (PMID: 20924072). For these reasons, this sequence change has been classified as Pathogenic.

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